### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PSTPIP1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "PSTPIP1" "proline-serine-threonine phosphatase interacting protein 1" "15" "q24-q25.1" "unknown" "LRG_172" "UD_132118642857" "" "http://www.LOVD.nl/PSTPIP1" "" "1" "9580" "9051" "606347" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PSTPIP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-02-09 05:49:13" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017072" "PSTPIP1" "proline-serine-threonine phosphatase interacting protein 1" "001" "NM_003978.3" "" "NP_003969.2" "" "" "" "-450" "1405" "1251" "77287465" "77329671" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02511" "-" "Pyogenic arthritis, pyoderma gangrenosum and acne" "AD" "604416" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PSTPIP1" "02511" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00291306" "" "" "" "255" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304483" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00433037" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Ecuador" "" "0" "" "" "" "Pat3,1" "00433145" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Ecuador" "" "0" "" "" "" "Pat126,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00291306" "00198" "00304483" "00198" "00433037" "05292" "00433145" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02511, 05292 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000323563" "05292" "00433037" "00006" "Familial, X-linked" "2y6m" "antibody deficiency including hyper IgM syndrome" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323671" "05292" "00433145" "00006" "Unknown" "2y" "immuno-osseous dysplasia, chromosomal disorder and other syndromic primary immunodeficiency diseases" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292474" "00291306" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305612" "00304483" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000434468" "00433037" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434576" "00433145" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 104 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000251943" "0" "30" "15" "77325220" "77325220" "subst" "0.000187963" "02326" "PSTPIP1_000027" "g.77325220A>G" "" "" "" "PSTPIP1(NM_003978.3):c.856A>G (p.N286D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77032879A>G" "" "likely benign" "" "0000301260" "0" "50" "15" "77328187" "77328187" "subst" "0" "02326" "PSTPIP1_000031" "g.77328187G>A" "" "" "" "PSTPIP1(NM_003978.3):c.1030G>A (p.V344I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77035846G>A" "" "VUS" "" "0000301261" "0" "10" "15" "77328255" "77328255" "subst" "0.00350886" "02326" "PSTPIP1_000032" "g.77328255G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.1071G>A (p.A357=), PSTPIP1(NM_003978.3):c.1098G>A (p.A366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77035914G>A" "" "benign" "" "0000301262" "0" "10" "15" "77329400" "77329400" "subst" "0.00113398" "02326" "PSTPIP1_000034" "g.77329400G>A" "" "" "" "PSTPIP1(NM_003978.3):c.1134G>A (p.L378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77037059G>A" "" "benign" "" "0000301263" "0" "30" "15" "77329409" "77329409" "subst" "0.00143631" "02326" "PSTPIP1_000035" "g.77329409C>T" "" "" "" "PSTPIP1(NM_003978.3):c.1143C>T (p.S381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77037068C>T" "" "likely benign" "" "0000301264" "0" "10" "15" "77310807" "77310807" "subst" "0.00243878" "02326" "PSTPIP1_000002" "g.77310807G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.120G>A (p.A40=), PSTPIP1(NM_003978.3):c.147G>A (p.A49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77018466G>A" "" "benign" "" "0000301265" "0" "10" "15" "77310726" "77310726" "subst" "0" "02326" "PSTPIP1_000001" "g.77310726T>G" "" "" "" "PSTPIP1(NM_003978.3):c.138-72T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77018385T>G" "" "benign" "" "0000301266" "0" "10" "15" "77310863" "77310863" "subst" "0.00172402" "02326" "PSTPIP1_000003" "g.77310863C>T" "" "" "" "PSTPIP1(NM_003978.3):c.203C>T (p.T68M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77018522C>T" "" "benign" "" "0000301267" "0" "10" "15" "77310884" "77310884" "subst" "0.00588612" "02326" "PSTPIP1_000004" "g.77310884C>T" "" "" "" "PSTPIP1(NM_003978.3):c.212+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77018543C>T" "" "benign" "" "0000301268" "0" "10" "15" "77317679" "77317679" "subst" "0.00112992" "02326" "PSTPIP1_000006" "g.77317679G>A" "" "" "" "PSTPIP1(NM_003978.3):c.247+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77025338G>A" "" "benign" "" "0000301270" "0" "10" "15" "77317773" "77317773" "subst" "0" "02326" "PSTPIP1_000007" "g.77317773G>A" "" "" "" "PSTPIP1(NM_003978.3):c.248-66G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77025432G>A" "" "benign" "" "0000301271" "0" "10" "15" "77317965" "77317965" "subst" "0.0102923" "02326" "PSTPIP1_000008" "g.77317965C>T" "" "" "" "PSTPIP1(NM_003978.3):c.354+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77025624C>T" "" "benign" "" "0000301272" "0" "30" "15" "77320181" "77320181" "subst" "2.39512E-5" "02326" "PSTPIP1_000010" "g.77320181T>C" "" "" "" "PSTPIP1(NM_003978.3):c.355-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77027840T>C" "" "likely benign" "" "0000301273" "0" "30" "15" "77320177" "77320177" "subst" "3.04011E-5" "02326" "PSTPIP1_000009" "g.77320177C>G" "" "" "" "PSTPIP1(NM_003978.3):c.355-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77027836C>G" "" "likely benign" "" "0000301274" "0" "30" "15" "77321896" "77321896" "subst" "0.00171009" "02326" "PSTPIP1_000011" "g.77321896G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.516G>A (p.K172=), PSTPIP1(NM_003978.3):c.543G>A (p.K181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77029555G>A" "" "likely benign" "" "0000301275" "0" "10" "15" "77322031" "77322031" "subst" "0" "02326" "PSTPIP1_000013" "g.77322031C>T" "" "" "" "PSTPIP1(NM_003978.3):c.562+116C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77029690C>T" "" "benign" "" "0000301276" "0" "30" "15" "77321962" "77321962" "subst" "0.00203659" "02326" "PSTPIP1_000012" "g.77321962G>A" "" "" "" "PSTPIP1(NM_003978.3):c.562+47G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77029621G>A" "" "likely benign" "" "0000301277" "0" "10" "15" "77322761" "77322761" "subst" "0" "02326" "PSTPIP1_000014" "g.77322761G>A" "" "" "" "PSTPIP1(NM_003978.3):c.563-82G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77030420G>A" "" "benign" "" "0000301278" "0" "10" "15" "77322938" "77322938" "subst" "0.00244169" "02326" "PSTPIP1_000015" "g.77322938G>A" "" "" "" "PSTPIP1(NM_003978.3):c.642+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77030597G>A" "" "benign" "" "0000301279" "0" "50" "15" "77323560" "77323560" "subst" "2.85142E-5" "02326" "PSTPIP1_000016" "g.77323560C>T" "" "" "" "PSTPIP1(NM_003978.3):c.682C>T (p.R228C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77031219C>T" "" "VUS" "" "0000301280" "0" "90" "15" "77323566" "77323566" "subst" "0" "02326" "PSTPIP1_000017" "g.77323566G>A" "" "" "" "PSTPIP1(NM_003978.3):c.688G>A (p.A230T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77031225G>A" "" "pathogenic" "" "0000301281" "0" "10" "15" "77323660" "77323660" "subst" "0.0263232" "02326" "PSTPIP1_000018" "g.77323660C>T" "" "" "" "PSTPIP1(NM_003978.3):c.741+41C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77031319C>T" "" "benign" "" "0000301282" "0" "90" "15" "77324645" "77324645" "subst" "0" "02326" "PSTPIP1_000019" "g.77324645G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.721G>A (p.E241K), PSTPIP1(NM_003978.3):c.748G>A (p.E250K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77032304G>A" "" "pathogenic" "" "0000301283" "0" "90" "15" "77324645" "77324645" "subst" "0" "02326" "PSTPIP1_000020" "g.77324645G>C" "" "" "" "PSTPIP1(NM_003978.3):c.748G>C (p.E250Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77032304G>C" "" "pathogenic" "" "0000301284" "0" "10" "15" "77324670" "77324670" "subst" "0.00814202" "02326" "PSTPIP1_000021" "g.77324670G>C" "" "" "" "PSTPIP1(NM_003978.3):c.773G>C (p.(Gly258Ala), p.G258A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77032329G>C" "" "benign" "" "0000301285" "0" "30" "15" "77324683" "77324683" "subst" "0.000709463" "02326" "PSTPIP1_000022" "g.77324683C>T" "" "" "" "PSTPIP1(NM_001321136.1):c.759C>T (p.D253=), PSTPIP1(NM_003978.3):c.786C>T (p.D262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77032342C>T" "" "likely benign" "" "0000301286" "0" "50" "15" "77324718" "77324718" "subst" "0" "02326" "PSTPIP1_000023" "g.77324718C>T" "" "" "" "PSTPIP1(NM_001321136.1):c.794C>T (p.T265M), PSTPIP1(NM_003978.3):c.821C>T (p.T274M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77032377C>T" "" "VUS" "" "0000301287" "0" "30" "15" "77324734" "77324734" "subst" "0.00386707" "02326" "PSTPIP1_000024" "g.77324734C>T" "" "" "" "PSTPIP1(NM_003978.3):c.837C>T (p.P279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77032393C>T" "" "likely benign" "" "0000301288" "0" "30" "15" "77325191" "77325191" "dup" "0" "02326" "PSTPIP1_000026" "g.77325191dup" "" "" "" "PSTPIP1(NM_003978.3):c.839-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77032850dup" "" "likely benign" "" "0000301290" "0" "30" "15" "77325272" "77325272" "subst" "0.000657706" "02326" "PSTPIP1_000028" "g.77325272C>T" "" "" "" "PSTPIP1(NM_003978.3):c.908C>T (p.P303L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77032931C>T" "" "likely benign" "" "0000301291" "0" "10" "15" "77325279" "77325279" "subst" "0.0280762" "02326" "PSTPIP1_000029" "g.77325279C>T" "" "" "" "PSTPIP1(NM_003978.3):c.915C>T (p.C305=), PSTPIP1(NM_003978.5):c.915C>T (p.(Cys305=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77032938C>T" "" "benign" "" "0000306565" "0" "30" "15" "77328255" "77328255" "subst" "0.00350886" "01943" "PSTPIP1_000032" "g.77328255G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.1071G>A (p.A357=), PSTPIP1(NM_003978.3):c.1098G>A (p.A366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77035914G>A" "" "likely benign" "" "0000306566" "0" "10" "15" "77328269" "77328269" "subst" "0.000911993" "01943" "PSTPIP1_000033" "g.77328269C>T" "" "" "" "PSTPIP1(NM_001321136.1):c.1085C>T (p.T362I), PSTPIP1(NM_003978.3):c.1112C>T (p.T371I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77035928C>T" "" "benign" "" "0000306567" "0" "30" "15" "77329409" "77329409" "subst" "0.00143631" "01943" "PSTPIP1_000035" "g.77329409C>T" "" "" "" "PSTPIP1(NM_003978.3):c.1143C>T (p.S381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77037068C>T" "" "likely benign" "" "0000306568" "0" "30" "15" "77310807" "77310807" "subst" "0.00243878" "01943" "PSTPIP1_000002" "g.77310807G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.120G>A (p.A40=), PSTPIP1(NM_003978.3):c.147G>A (p.A49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77018466G>A" "" "likely benign" "" "0000324224" "0" "30" "15" "77324670" "77324670" "subst" "0.00814202" "01804" "PSTPIP1_000021" "g.77324670G>C" "" "" "" "PSTPIP1(NM_003978.3):c.773G>C (p.(Gly258Ala), p.G258A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77032329G>C" "" "likely benign" "" "0000345293" "0" "90" "15" "77324645" "77324645" "subst" "0" "02327" "PSTPIP1_000019" "g.77324645G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.721G>A (p.E241K), PSTPIP1(NM_003978.3):c.748G>A (p.E250K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77032304G>A" "" "pathogenic" "" "0000555534" "0" "10" "15" "77308463" "77308463" "subst" "0" "02326" "PSTPIP1_000038" "g.77308463A>G" "" "" "" "PSTPIP1(NM_003978.3):c.37-2026A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77016122A>G" "" "benign" "" "0000555535" "0" "30" "15" "77308495" "77308495" "subst" "0" "02326" "PSTPIP1_000039" "g.77308495C>G" "" "" "" "PSTPIP1(NM_003978.3):c.37-1994C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77016154C>G" "" "likely benign" "" "0000555536" "0" "30" "15" "77310511" "77310511" "subst" "0" "02326" "PSTPIP1_000040" "g.77310511C>T" "" "" "" "PSTPIP1(NM_003978.3):c.59C>T (p.T20M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77018170C>T" "" "likely benign" "" "0000555537" "0" "30" "15" "77317669" "77317669" "dup" "0" "02326" "PSTPIP1_000041" "g.77317669dup" "" "" "" "PSTPIP1(NM_003978.3):c.247+10dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77025328dup" "" "likely benign" "" "0000555538" "0" "30" "15" "77317955" "77317955" "subst" "0.000304821" "02326" "PSTPIP1_000042" "g.77317955G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.327+10G>A, PSTPIP1(NM_003978.3):c.354+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77025614G>A" "" "likely benign" "" "0000555539" "0" "50" "15" "77320937" "77320937" "subst" "0" "01943" "PSTPIP1_000043" "g.77320937G>T" "" "" "" "PSTPIP1(NM_001321136.1):c.433G>T (p.A145S), PSTPIP1(NM_003978.5):c.460G>T (p.A154S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77028596G>T" "" "VUS" "" "0000555540" "0" "30" "15" "77321896" "77321896" "subst" "0.00171009" "01943" "PSTPIP1_000011" "g.77321896G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.516G>A (p.K172=), PSTPIP1(NM_003978.3):c.543G>A (p.K181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77029555G>A" "" "likely benign" "" "0000555541" "0" "30" "15" "77321908" "77321908" "subst" "5.26028E-6" "01943" "PSTPIP1_000044" "g.77321908C>G" "" "" "" "PSTPIP1(NM_001321136.1):c.528C>G (p.T176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77029567C>G" "" "likely benign" "" "0000555542" "0" "10" "15" "77323530" "77323530" "subst" "0.000751088" "02326" "PSTPIP1_000045" "g.77323530C>T" "" "" "" "PSTPIP1(NM_001321136.1):c.625C>T (p.L209=), PSTPIP1(NM_003978.3):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77031189C>T" "" "benign" "" "0000555543" "0" "90" "15" "77323533" "77323533" "subst" "4.08003E-5" "02327" "PSTPIP1_000046" "g.77323533C>T" "" "" "" "PSTPIP1(NM_001321136.1):c.628C>T (p.Q210*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77031192C>T" "" "pathogenic" "" "0000555544" "0" "30" "15" "77323565" "77323565" "subst" "0.000415438" "02326" "PSTPIP1_000047" "g.77323565C>T" "" "" "" "PSTPIP1(NM_003978.3):c.687C>T (p.N229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77031224C>T" "" "likely benign" "" "0000555545" "0" "30" "15" "77325311" "77325311" "subst" "0" "02326" "PSTPIP1_000048" "g.77325311G>A" "" "" "" "PSTPIP1(NM_003978.3):c.929+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77032970G>A" "" "likely benign" "" "0000555546" "0" "10" "15" "77327859" "77327859" "subst" "0.000947085" "02326" "PSTPIP1_000049" "g.77327859C>T" "" "" "" "PSTPIP1(NM_003978.3):c.940C>T (p.L314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77035518C>T" "" "benign" "" "0000555547" "0" "10" "15" "77328108" "77328108" "dup" "0" "02326" "PSTPIP1_000050" "g.77328108dup" "" "" "" "PSTPIP1(NM_003978.3):c.986-35dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77035767dup" "" "benign" "" "0000555548" "0" "30" "15" "77328269" "77328269" "subst" "0.000911993" "02326" "PSTPIP1_000033" "g.77328269C>T" "" "" "" "PSTPIP1(NM_001321136.1):c.1085C>T (p.T362I), PSTPIP1(NM_003978.3):c.1112C>T (p.T371I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77035928C>T" "" "likely benign" "" "0000555549" "0" "30" "15" "77328272" "77328272" "subst" "0.000102538" "02325" "PSTPIP1_000051" "g.77328272C>T" "" "" "" "PSTPIP1(NM_003978.5):c.1115C>T (p.A372V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77035931C>T" "" "likely benign" "" "0000555550" "0" "30" "15" "77329410" "77329410" "subst" "0.00104313" "02326" "PSTPIP1_000052" "g.77329410G>A" "" "" "" "PSTPIP1(NM_003978.3):c.1144G>A (p.A382T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77037069G>A" "" "likely benign" "" "0000615542" "0" "30" "15" "77321924" "77321924" "subst" "0" "01943" "PSTPIP1_000055" "g.77321924G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.535+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77029583G>A" "" "likely benign" "" "0000615543" "0" "50" "15" "77323533" "77323533" "subst" "4.08003E-5" "01943" "PSTPIP1_000046" "g.77323533C>T" "" "" "" "PSTPIP1(NM_001321136.1):c.628C>T (p.Q210*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77031192C>T" "" "VUS" "" "0000623302" "0" "30" "15" "77287791" "77287791" "subst" "0.00011639" "01943" "PSTPIP1_000053" "g.77287791C>T" "" "" "" "PSTPIP1(NM_001321137.1):c.72C>T (p.G24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76995450C>T" "" "likely benign" "" "0000623303" "0" "30" "15" "77320875" "77320875" "subst" "0.000123274" "02326" "PSTPIP1_000054" "g.77320875A>G" "" "" "" "PSTPIP1(NM_003978.3):c.418-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77028534A>G" "" "likely benign" "" "0000623304" "0" "30" "15" "77328176" "77328176" "subst" "2.46605E-5" "02326" "PSTPIP1_000056" "g.77328176G>A" "" "" "" "PSTPIP1(NM_003978.3):c.1019G>A (p.R340Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77035835G>A" "" "likely benign" "" "0000649163" "1" "10" "15" "77325279" "77325279" "subst" "0.0280762" "03575" "PSTPIP1_000029" "g.77325279C>T" "255/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "255 heterozygous; {DB:CLININrs11858480}" "Germline" "" "rs11858480" "0" "" "" "g.77032938C>T" "" "benign" "" "0000657665" "0" "30" "15" "77310819" "77310819" "subst" "6.49227E-5" "02326" "PSTPIP1_000057" "g.77310819C>T" "" "" "" "PSTPIP1(NM_003978.3):c.159C>T (p.Y53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77018478C>T" "" "likely benign" "" "0000657666" "0" "30" "15" "77329417" "77329417" "subst" "0.00116456" "02326" "PSTPIP1_000058" "g.77329417A>G" "" "" "" "PSTPIP1(NM_001321136.1):c.1124A>G (p.D375G), PSTPIP1(NM_003978.3):c.1151A>G (p.D384G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77037076A>G" "" "likely benign" "" "0000669300" "3" "10" "15" "77325279" "77325279" "subst" "0.0280762" "03575" "PSTPIP1_000029" "g.77325279C>T" "8/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs11858480}" "Germline" "" "rs11858480" "0" "" "" "g.77032938C>T" "" "benign" "" "0000680297" "0" "50" "15" "77310809" "77310809" "subst" "0" "02325" "PSTPIP1_000059" "g.77310809A>T" "" "" "" "PSTPIP1(NM_001321136.2):c.122A>T (p.E41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691871" "0" "30" "15" "77287789" "77287789" "subst" "0.000135626" "01943" "PSTPIP1_000060" "g.77287789G>T" "" "" "" "PSTPIP1(NM_001321137.1):c.70G>T (p.G24C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691872" "0" "30" "15" "77323530" "77323530" "subst" "0.000751088" "01943" "PSTPIP1_000045" "g.77323530C>T" "" "" "" "PSTPIP1(NM_001321136.1):c.625C>T (p.L209=), PSTPIP1(NM_003978.3):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691873" "0" "50" "15" "77323565" "77323565" "subst" "0" "01943" "PSTPIP1_000061" "g.77323565C>A" "" "" "" "PSTPIP1(NM_001321136.1):c.660C>A (p.N220K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691874" "0" "90" "15" "77324645" "77324645" "subst" "0" "01943" "PSTPIP1_000019" "g.77324645G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.721G>A (p.E241K), PSTPIP1(NM_003978.3):c.748G>A (p.E250K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691875" "0" "30" "15" "77328261" "77328261" "subst" "4.6968E-5" "01943" "PSTPIP1_000062" "g.77328261C>T" "" "" "" "PSTPIP1(NM_001321136.1):c.1077C>T (p.Y359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725310" "0" "50" "15" "77287850" "77287850" "subst" "2.05354E-5" "01943" "PSTPIP1_000063" "g.77287850G>A" "" "" "" "PSTPIP1(NM_001321137.1):c.131G>A (p.R44H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725311" "0" "90" "15" "77323566" "77323566" "subst" "0" "02327" "PSTPIP1_000017" "g.77323566G>A" "" "" "" "PSTPIP1(NM_003978.3):c.688G>A (p.A230T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725312" "0" "30" "15" "77324683" "77324683" "subst" "0.000709463" "01943" "PSTPIP1_000022" "g.77324683C>T" "" "" "" "PSTPIP1(NM_001321136.1):c.759C>T (p.D253=), PSTPIP1(NM_003978.3):c.786C>T (p.D262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725313" "0" "10" "15" "77329472" "77329472" "subst" "0.000751247" "02326" "PSTPIP1_000064" "g.77329472C>T" "" "" "" "PSTPIP1(NM_003978.3):c.1206C>T (p.N402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806928" "0" "50" "15" "77287856" "77287856" "subst" "0" "01943" "PSTPIP1_000065" "g.77287856C>A" "" "" "" "PSTPIP1(NM_001321137.1):c.137C>A (p.A46D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806929" "0" "30" "15" "77287919" "77287919" "subst" "0.000289446" "01943" "PSTPIP1_000066" "g.77287919T>C" "" "" "" "PSTPIP1(NM_001321135.1):c.5T>C (p.M2T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806930" "0" "30" "15" "77321890" "77321890" "subst" "0" "01943" "PSTPIP1_000067" "g.77321890G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.510G>A (p.Q170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806931" "0" "30" "15" "77322880" "77322880" "subst" "0" "02326" "PSTPIP1_000068" "g.77322880G>C" "" "" "" "PSTPIP1(NM_003978.3):c.600G>C (p.K200N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806932" "0" "50" "15" "77324718" "77324718" "subst" "0" "01943" "PSTPIP1_000023" "g.77324718C>T" "" "" "" "PSTPIP1(NM_001321136.1):c.794C>T (p.T265M), PSTPIP1(NM_003978.3):c.821C>T (p.T274M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854186" "0" "50" "15" "77287133" "77287133" "subst" "0" "01943" "PSTPIP1_000069" "g.77287133G>A" "" "" "" "PSTPIP1(NM_001321137.1):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854187" "0" "30" "15" "77317955" "77317955" "subst" "0.000304821" "01943" "PSTPIP1_000042" "g.77317955G>A" "" "" "" "PSTPIP1(NM_001321136.1):c.327+10G>A, PSTPIP1(NM_003978.3):c.354+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854188" "0" "50" "15" "77328143" "77328143" "subst" "8.77736E-5" "01943" "PSTPIP1_000071" "g.77328143C>T" "" "" "" "PSTPIP1(NM_001321136.1):c.959C>T (p.A320V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854189" "0" "30" "15" "77329417" "77329417" "subst" "0.00116456" "01943" "PSTPIP1_000058" "g.77329417A>G" "" "" "" "PSTPIP1(NM_001321136.1):c.1124A>G (p.D375G), PSTPIP1(NM_003978.3):c.1151A>G (p.D384G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863970" "0" "30" "15" "77310609" "77310609" "del" "0.00135784" "02326" "PSTPIP1_000070" "g.77310609del" "" "" "" "PSTPIP1(NM_003978.3):c.137+20delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892290" "0" "30" "15" "77323535" "77323535" "subst" "0.000599628" "02326" "PSTPIP1_000072" "g.77323535A>C" "" "" "" "PSTPIP1(NM_003978.3):c.657A>C (p.Q219H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892291" "0" "30" "15" "77329474" "77329474" "subst" "0.000212333" "02325" "PSTPIP1_000073" "g.77329474G>A" "" "" "" "PSTPIP1(NM_003978.5):c.1208G>A (p.G403E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914373" "0" "30" "15" "77317648" "77317648" "subst" "0.000755772" "02326" "PSTPIP1_000074" "g.77317648C>T" "" "" "" "PSTPIP1(NM_003978.3):c.236C>T (p.S79F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920328" "1" "50" "15" "77325229" "77325229" "subst" "0" "00006" "PSTPIP1_000075" "g.77325229G>C" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.77032888G>C" "" "VUS" "ACMG" "0000920332" "11" "50" "15" "77328272" "77328272" "subst" "0.000102538" "00006" "PSTPIP1_000051" "g.77328272C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "relevant variant, not consistent with phenotype" "Germline" "" "" "0" "" "" "g.77035931C>T" "" "VUS" "ACMG" "0000926040" "0" "50" "15" "77320937" "77320937" "subst" "0" "02325" "PSTPIP1_000043" "g.77320937G>T" "" "" "" "PSTPIP1(NM_001321136.1):c.433G>T (p.A145S), PSTPIP1(NM_003978.5):c.460G>T (p.A154S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926041" "0" "30" "15" "77327923" "77327923" "subst" "0.00125409" "02326" "PSTPIP1_000076" "g.77327923G>T" "" "" "" "PSTPIP1(NM_003978.3):c.985+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926042" "0" "30" "15" "77329366" "77329366" "subst" "7.41235E-5" "02326" "PSTPIP1_000077" "g.77329366G>A" "" "" "" "PSTPIP1(NM_003978.3):c.1120-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926043" "0" "30" "15" "77329721" "77329721" "subst" "0" "02326" "PSTPIP1_000078" "g.77329721G>A" "" "" "" "PSTPIP1(NR_135552.2):n.1635G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930434" "0" "50" "15" "77329507" "77329507" "subst" "0" "02325" "PSTPIP1_000079" "g.77329507A>T" "" "" "" "PSTPIP1(NM_003978.5):c.1241A>T (p.E414V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967963" "0" "50" "15" "77329473" "77329473" "subst" "1.22517E-5" "02327" "PSTPIP1_000080" "g.77329473G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001688" "0" "50" "15" "77310814" "77310814" "subst" "0" "02325" "PSTPIP1_000081" "g.77310814C>T" "" "" "" "PSTPIP1(NM_003978.5):c.154C>T (p.R52W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001689" "0" "50" "15" "77324736" "77324736" "subst" "4.08307E-6" "01804" "PSTPIP1_000082" "g.77324736G>A" "" "" "" "PSTPIP1(NM_003978.3):c.838+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001690" "0" "30" "15" "77325233" "77325233" "subst" "0" "01804" "PSTPIP1_000083" "g.77325233G>A" "" "" "" "PSTPIP1(NM_003978.3):c.869G>A (p.(Arg290Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001691" "0" "50" "15" "77328272" "77328272" "del" "0" "01804" "PSTPIP1_000084" "g.77328272del" "" "" "" "PSTPIP1(NM_003978.3):c.1115delC (p.(Ala372fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001692" "0" "30" "15" "77329389" "77329389" "subst" "2.87092E-5" "01804" "PSTPIP1_000085" "g.77329389C>G" "" "" "" "PSTPIP1(NM_003978.3):c.1123C>G (p.(Pro375Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026508" "0" "30" "15" "77324734" "77324734" "subst" "0.00386707" "02327" "PSTPIP1_000024" "g.77324734C>T" "" "" "" "PSTPIP1(NM_003978.3):c.837C>T (p.P279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040600" "0" "50" "15" "77320982" "77320982" "subst" "0" "02327" "PSTPIP1_000086" "g.77320982C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040601" "0" "30" "15" "77322909" "77322909" "subst" "2.45938E-5" "02325" "PSTPIP1_000087" "g.77322909G>A" "" "" "" "PSTPIP1(NM_003978.5):c.629G>A (p.R210Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040602" "0" "50" "15" "77322921" "77322921" "subst" "0" "02325" "PSTPIP1_000088" "g.77322921A>G" "" "" "" "PSTPIP1(NM_003978.5):c.641A>G (p.E214G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040603" "0" "30" "15" "77325279" "77325279" "subst" "0.0280762" "01804" "PSTPIP1_000029" "g.77325279C>T" "" "" "" "PSTPIP1(NM_003978.3):c.915C>T (p.C305=), PSTPIP1(NM_003978.5):c.915C>T (p.(Cys305=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PSTPIP1 ## Count = 104 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000251943" "00017072" "30" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Asn286Asp)" "" "0000301260" "00017072" "50" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Val344Ile)" "" "0000301261" "00017072" "10" "1098" "0" "1098" "0" "c.1098G>A" "r.(?)" "p.(Ala366=)" "" "0000301262" "00017072" "10" "1134" "0" "1134" "0" "c.1134G>A" "r.(?)" "p.(Leu378=)" "" "0000301263" "00017072" "30" "1143" "0" "1143" "0" "c.1143C>T" "r.(?)" "p.(Ser381=)" "" "0000301264" "00017072" "10" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Ala49=)" "" "0000301265" "00017072" "10" "138" "-72" "138" "-72" "c.138-72T>G" "r.(=)" "p.(=)" "" "0000301266" "00017072" "10" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Thr68Met)" "" "0000301267" "00017072" "10" "212" "12" "212" "12" "c.212+12C>T" "r.(=)" "p.(=)" "" "0000301268" "00017072" "10" "247" "20" "247" "20" "c.247+20G>A" "r.(=)" "p.(=)" "" "0000301270" "00017072" "10" "248" "-66" "248" "-66" "c.248-66G>A" "r.(=)" "p.(=)" "" "0000301271" "00017072" "10" "354" "20" "354" "20" "c.354+20C>T" "r.(=)" "p.(=)" "" "0000301272" "00017072" "30" "355" "-12" "355" "-12" "c.355-12T>C" "r.(=)" "p.(=)" "" "0000301273" "00017072" "30" "355" "-16" "355" "-16" "c.355-16C>G" "r.(=)" "p.(=)" "" "0000301274" "00017072" "30" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(Lys181=)" "" "0000301275" "00017072" "10" "562" "116" "562" "116" "c.562+116C>T" "r.(=)" "p.(=)" "" "0000301276" "00017072" "30" "562" "47" "562" "47" "c.562+47G>A" "r.(=)" "p.(=)" "" "0000301277" "00017072" "10" "563" "-82" "563" "-82" "c.563-82G>A" "r.(=)" "p.(=)" "" "0000301278" "00017072" "10" "642" "16" "642" "16" "c.642+16G>A" "r.(=)" "p.(=)" "" "0000301279" "00017072" "50" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "" "0000301280" "00017072" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Ala230Thr)" "" "0000301281" "00017072" "10" "741" "41" "741" "41" "c.741+41C>T" "r.(=)" "p.(=)" "" "0000301282" "00017072" "90" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "0000301283" "00017072" "90" "748" "0" "748" "0" "c.748G>C" "r.(?)" "p.(Glu250Gln)" "" "0000301284" "00017072" "10" "773" "0" "773" "0" "c.773G>C" "r.(?)" "p.(Gly258Ala)" "" "0000301285" "00017072" "30" "786" "0" "786" "0" "c.786C>T" "r.(?)" "p.(Asp262=)" "" "0000301286" "00017072" "50" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Thr274Met)" "" "0000301287" "00017072" "30" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(Pro279=)" "" "0000301288" "00017072" "30" "839" "-12" "839" "-12" "c.839-12dup" "r.(=)" "p.(=)" "" "0000301290" "00017072" "30" "908" "0" "908" "0" "c.908C>T" "r.(?)" "p.(Pro303Leu)" "" "0000301291" "00017072" "10" "915" "0" "915" "0" "c.915C>T" "r.(?)" "p.(Cys305=)" "" "0000306565" "00017072" "30" "1098" "0" "1098" "0" "c.1098G>A" "r.(?)" "p.(Ala366=)" "" "0000306566" "00017072" "10" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Thr371Ile)" "" "0000306567" "00017072" "30" "1143" "0" "1143" "0" "c.1143C>T" "r.(?)" "p.(Ser381=)" "" "0000306568" "00017072" "30" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Ala49=)" "" "0000324224" "00017072" "30" "773" "0" "773" "0" "c.773G>C" "r.(?)" "p.(Gly258Ala)" "" "0000345293" "00017072" "90" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "0000555534" "00017072" "10" "37" "-2026" "37" "-2026" "c.37-2026A>G" "r.(=)" "p.(=)" "" "0000555535" "00017072" "30" "37" "-1994" "37" "-1994" "c.37-1994C>G" "r.(=)" "p.(=)" "" "0000555536" "00017072" "30" "59" "0" "59" "0" "c.59C>T" "r.(?)" "p.(Thr20Met)" "" "0000555537" "00017072" "30" "247" "10" "247" "10" "c.247+10dup" "r.(=)" "p.(=)" "" "0000555538" "00017072" "30" "354" "10" "354" "10" "c.354+10G>A" "r.(=)" "p.(=)" "" "0000555539" "00017072" "50" "460" "0" "460" "0" "c.460G>T" "r.(?)" "p.(Ala154Ser)" "" "0000555540" "00017072" "30" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(Lys181=)" "" "0000555541" "00017072" "30" "555" "0" "555" "0" "c.555C>G" "r.(?)" "p.(Thr185=)" "" "0000555542" "00017072" "10" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Leu218=)" "" "0000555543" "00017072" "90" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Gln219Ter)" "" "0000555544" "00017072" "30" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Asn229=)" "" "0000555545" "00017072" "30" "929" "18" "929" "18" "c.929+18G>A" "r.(=)" "p.(=)" "" "0000555546" "00017072" "10" "940" "0" "940" "0" "c.940C>T" "r.(?)" "p.(Leu314=)" "" "0000555547" "00017072" "10" "986" "-35" "986" "-35" "c.986-35dup" "r.(=)" "p.(=)" "" "0000555548" "00017072" "30" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Thr371Ile)" "" "0000555549" "00017072" "30" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ala372Val)" "" "0000555550" "00017072" "30" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Ala382Thr)" "" "0000615542" "00017072" "30" "562" "9" "562" "9" "c.562+9G>A" "r.(=)" "p.(=)" "" "0000615543" "00017072" "50" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Gln219Ter)" "" "0000623302" "00017072" "30" "-124" "0" "-124" "0" "c.-124C>T" "r.(?)" "p.(=)" "" "0000623303" "00017072" "30" "418" "-20" "418" "-20" "c.418-20A>G" "r.(=)" "p.(=)" "" "0000623304" "00017072" "30" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340Gln)" "" "0000649163" "00017072" "10" "915" "0" "915" "0" "c.915C>T" "r.(=)" "p.(=)" "" "0000657665" "00017072" "30" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(Tyr53=)" "" "0000657666" "00017072" "30" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Asp384Gly)" "" "0000669300" "00017072" "10" "915" "0" "915" "0" "c.915C>T" "r.(=)" "p.(=)" "" "0000680297" "00017072" "50" "149" "0" "149" "0" "c.149A>T" "r.(?)" "p.(Glu50Val)" "" "0000691871" "00017072" "30" "-126" "0" "-126" "0" "c.-126G>T" "r.(?)" "p.(=)" "" "0000691872" "00017072" "30" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Leu218=)" "" "0000691873" "00017072" "50" "687" "0" "687" "0" "c.687C>A" "r.(?)" "p.(Asn229Lys)" "" "0000691874" "00017072" "90" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "0000691875" "00017072" "30" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Tyr368=)" "" "0000725310" "00017072" "50" "-65" "0" "-65" "0" "c.-65G>A" "r.(?)" "p.(=)" "" "0000725311" "00017072" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Ala230Thr)" "" "0000725312" "00017072" "30" "786" "0" "786" "0" "c.786C>T" "r.(?)" "p.(Asp262=)" "" "0000725313" "00017072" "10" "1206" "0" "1206" "0" "c.1206C>T" "r.(?)" "p.(Asn402=)" "" "0000806928" "00017072" "50" "-59" "0" "-59" "0" "c.-59C>A" "r.(?)" "p.(=)" "" "0000806929" "00017072" "30" "5" "0" "5" "0" "c.5T>C" "r.(?)" "p.(Met2Thr)" "" "0000806930" "00017072" "30" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Gln179=)" "" "0000806931" "00017072" "30" "600" "0" "600" "0" "c.600G>C" "r.(?)" "p.(Lys200Asn)" "" "0000806932" "00017072" "50" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Thr274Met)" "" "0000854186" "00017072" "50" "-782" "0" "-782" "0" "c.-782G>A" "r.(?)" "p.(=)" "" "0000854187" "00017072" "30" "354" "10" "354" "10" "c.354+10G>A" "r.(=)" "p.(=)" "" "0000854188" "00017072" "50" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Ala329Val)" "" "0000854189" "00017072" "30" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Asp384Gly)" "" "0000863970" "00017072" "30" "137" "20" "137" "20" "c.137+20del" "r.(=)" "p.(=)" "" "0000892290" "00017072" "30" "657" "0" "657" "0" "c.657A>C" "r.(?)" "p.(Gln219His)" "" "0000892291" "00017072" "30" "1208" "0" "1208" "0" "c.1208G>A" "r.(?)" "p.(Gly403Glu)" "" "0000914373" "00017072" "30" "236" "0" "236" "0" "c.236C>T" "r.(?)" "p.(Ser79Phe)" "" "0000920328" "00017072" "50" "865" "0" "865" "0" "c.865G>C" "r.(?)" "p.(Asp289His)" "12" "0000920332" "00017072" "50" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ala372Val)" "14" "0000926040" "00017072" "50" "460" "0" "460" "0" "c.460G>T" "r.(?)" "p.(Ala154Ser)" "" "0000926041" "00017072" "30" "985" "19" "985" "19" "c.985+19G>T" "r.(=)" "p.(=)" "" "0000926042" "00017072" "30" "1120" "-20" "1120" "-20" "c.1120-20G>A" "r.(=)" "p.(=)" "" "0000926043" "00017072" "30" "1455" "0" "1455" "0" "c.*204G>A" "r.(=)" "p.(=)" "" "0000930434" "00017072" "50" "1241" "0" "1241" "0" "c.1241A>T" "r.(?)" "p.(Glu414Val)" "" "0000967963" "00017072" "50" "1207" "0" "1207" "0" "c.1207G>A" "r.(?)" "p.(Gly403Arg)" "" "0001001688" "00017072" "50" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Arg52Trp)" "" "0001001689" "00017072" "50" "838" "1" "838" "1" "c.838+1G>A" "r.spl?" "p.?" "" "0001001690" "00017072" "30" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" "" "0001001691" "00017072" "50" "1115" "0" "1115" "0" "c.1115del" "r.(?)" "p.(Ala372Glyfs*17)" "" "0001001692" "00017072" "30" "1123" "0" "1123" "0" "c.1123C>G" "r.(?)" "p.(Pro375Ala)" "" "0001026508" "00017072" "30" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(Pro279=)" "" "0001040600" "00017072" "50" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Gln169*)" "" "0001040601" "00017072" "30" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Arg210Gln)" "" "0001040602" "00017072" "50" "641" "0" "641" "0" "c.641A>G" "r.(?)" "p.(Glu214Gly)" "" "0001040603" "00017072" "30" "915" "0" "915" "0" "c.915C>T" "r.(?)" "p.(Cys305=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000292474" "0000649163" "0000305612" "0000669300" "0000434468" "0000920332" "0000434576" "0000920328"